Associated Papers
A novel compound heterozygous variant of ECEL1 induced joint dysfunction and cartilage degradation: a case report and literature review.
Jing S et al.
Frontiers in Neurology, 2024
ECEL1 novel mutation in arthrogryposis type 5D: A molecular dynamic simulation study.
Ahangari N et al.
Molecular Genetics & Genomic Medicine, 2023
Genomic analyses of 10,376 individuals in the Westlake BioBank for Chinese (WBBC) pilot project.
Cong PK et al.
Nature Communications, 2022
35618720 (PubMed )
Supplement: 41467_2022_30526_MOESM5_ESM.xlsx › Data_2
A New Intronic Variant in ECEL1 in Two Patients with Distal Arthrogryposis Type 5D.
Alesi V et al.
International Journal of Molecular Sciences, 2021
The Novel Compound Heterozygous Mutations of ECEL1 Identified in a Family with Distal Arthrogryposis Type 5D.
Jin JY et al.
Biomed Research International, 2020
ECEL1 mutation causes fetal arthrogryposis multiplex congenita.
Dohrn N et al.
American Journal of Medical Genetics. Part A, 2015
The ECEL1-related strabismus phenotype is consistent with congenital cranial dysinnervation disorder.
Khan AO et al.
Journal of Aapos : the Official Publication of the American Association for Pediatric Ophthalmology and Strabismus, 2014
Mutations in ECEL1 cause distal arthrogryposis type 5D.
McMillin MJ et al.
American Journal of Human Genetics, 2013
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